G49E (p.Gly49Glu) variant of DLG4 (Disks large homolog 4)
G49E (p.Gly49Glu) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- rs756296025
- ExAC rs756296025
- gnomAD rs756296025
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.12
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.761